Elia Di Schiavi

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

Viviana Cordeddu, Elia Di Schiavi, L Pennacchio et al. · Nature Genetics · 2009 · 410 citations · Full text

Noonan-like Syndrome, Loose Anagen Hair, Genetics +3

Activation of Autophagy, Observed in Liver Tissues From Patients With Wilson Disease and From ATP7B-Deficient Animals, Protects Hepatocytes From Copper-Induced Apoptosis

Elena V. Polishchuk, Assunta Merolla, Josef Lichtmannegger et al. · Gastroenterology · 2018 · 257 citations · Full text

From Atp7b-deficient Animals, Mitophagy, Apoptosis +16

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes

Simone Martinelli, Oliver H.F. Krumbach, Francesca Pantaleoni et al. · The American Journal of Human Genetics · 2018 · 181 citations · Full text

Signal Transduction, Signaling Pathway, Cell Regulation +5

Efficient and cell specific knock-down of gene function in targeted C. elegans neurons

Giovanni Esposito, Elia Di Schiavi, Carmela Bergamasco et al. · Gene · 2007 · 175 citations

Developmental Biology, Molecular Neuroscience, Gene Regulation +5

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

Elisabetta Flex, Mamta Jaiswal, Francesca Pantaleoni et al. · Human Molecular Genetics · 2014 · 142 citations · Full text

Engineering, Genetics, Pathology +17